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Life with Marfan syndrome

Wake Forest Baptist Medical Center HealthWire
WINSTON-SALEM — It was the advice she got from her pediatrician and his wife five years ago, after her son Evan was diagnosed with Marfan syndrome, that still rings true to Susanna Hollingsworth.
“They said ‘Don’t sit down at your computer and go on the information highway,’ ’’ she recalls, tears glistening at the corner of her eyes. “There’s a lot of misinformation out there, and they were right. And it’s easy to get stuck in cyberworld and it’s 2 in the morning and you’re bawling your eyes out.’’
Instead, the Hollingsworth family of Salisbury — Susanna and her husband, Michael, Evan, 10, son Asa, 14, and daughter Phoebe, 8 — have pulled together to fight a genetic disorder that has put Evan through multiple eye surgeries and monitoring for the dangerous aortic growth common to Marfan syndrome patients.
And for three years ending in August, Evan participated in a groundbreaking study of a drug that scientists hope could prove to reduce aortic growth, the most potentially lethal effect of Marfan syndrome. The Hollingsworths traveled to Wake Forest Baptist Medical Center in Winston-Salem for the testing, one of 28 hospitals worldwide to participate.
People with Marfan syndrome have increased levels of a protein in their body that affects the connective tissues in their body in different ways.
If diagnosed early in life, as it was with Evan, Marfan syndrome patients are monitored for aortic growth. When the growth reaches a critical point, they undergo pre-emptive surgery to repair the damaged portion of the aorta. The disease, however, is likely to affect the adjacent section of aorta, which then requires monitoring, kicking off a new cycle of monitoring and leaving the possibility of multiple surgeries over a lifetime.
An estimated 1 in 5,000 people in the United States are believed to have Marfan syndrome, but half of the cases are never diagnosed.
Marfan syndrome received its biggest publicity boost because of an athletic tragedy.
Renowned women’s volleyball player Flo Hyman, who led a previously unsung U.S. team to an Olympic silver medal in 1984, collapsed and died on court while playing in a Japanese league in 1986. An autopsy showed a ruptured aorta and she was diagnosed posthumously with Marfan syndrome. One of Hyman’s seven surviving siblings, a brother, was then diagnosed with Marfan syndrome and underwent life-saving heart surgery.
Marfan syndrome patients frequently have detached, or “subluxed’’ lenses in their eyes (which was how the Hollingsworths first became aware of their son’s condition), and they’re tall and thin, with a long wingspan and spindly fingers. But the physical conditions are not always evident, and though Marfan syndrome is most frequently (75 percent of the time) inherited, some patients, such as Evan, have a mutated form of the gene and are the first in their family to have it.
Susanna Hollingsworth says although it meant seeing another doctor for Evan, it was worth the chance to participate in the international study, which is being conducted by the Pediatric Heart Network and funded by its parent, the National Heart, Lung and Blood Institute. The National Marfan Foundation, based in New York, also is supporting the trial.
The study is giving more than 600 Marfan syndrome patients either atenolol, a drug already being used to reduce pressure on the aorta, or losartan, an anti-hypertension drug that researchers found actually reduced the growth of the aorta in mice.
Ideally, the study would show that losartan slows or even reverses aortic growth in humans.
“Being able to prevent something from happening is the holy grail, but being able to treat it to prevent repeat surgeries would even be better,’’ says Victoria Pemberton, deputy project officer for the Pediatric Heart Network.
The results won’t be known until the last subjects complete testing in early 2014.
Dr. Wesley Covitz, a pediatric cardiologist for Wake Forest Baptist, has treated patients at what has become a regional Marfan syndrome center for more than 20 years. He is excited about what the study may hold for young patients such as Evan.
“The thing that affects their life span is the aorta,’’ Covitz says. “They may have problems with their back or their legs or they may have visual problems, but they die from aortic rupture.’’
Whether losartan, or a possible future combination of drug treatments, will help in slowing aortic growth, Covitz sees the early diagnosis of Marfan syndrome from recognition of its symptoms (such as subluxed lenses) as a big improvement.
“Prior to the management schedule we have today, most patients with Marfan syndrome died as young adults,’’ he says.
Although genetic testing is available, people are not considered Marfan syndrome patients until they have a clinical diagnosis confirming that they have a number of the syndrome’s features in different parts of their body.
The typical Marfan syndrome patient can lead an active and long life, but there are restrictions based on the physical issues, primarily the stress on the aorta. Evan, for example, can’t play most “ball’’ sports. As a fifth grader, that’s tough.
“He’s allowed to say ‘This stinks,’ ” Susanna Hollingsworth says. “It’s very important because I need to be allowed to say that, too.’’
And Evan himself isn’t quite as charitable as his mom in seeing the benefits of his disorder in terms of a family having more time and activities together (such as camping) vs. the loss of time with his friends.
Evan, a gangly boy with a mop of light-brown hair who’s grown 3 inches since the spring to 5-foot-2, says he hates the fact that when he wants to get together over the weekend and calls his friends they inevitably are busy playing soccer or baseball, basketball or football.
“I can’t do anything that I like, pretty much. I’m not allowed to because of this dumb heart condition.’’
Still, Evan appears to have adapted well, taking up golf with a family friend and showing a smooth, long swing for a 10-year-old. He’s been a Boy Scout for two years. And he happily demonstrates signs of his being double-jointed, something else common to people with Marfan syndrome.
In fact, he says, the best part of going to an annual conference for Marfan syndrome patients was getting to meet other teenagers and learn double-jointed “tricks,’’ such as twisting his fingers into the equivalent of pretzels.
With her son’s aortic measurement holding steady, Susanna Hollingsworth says it’s possible that Evan won’t ever need the heart surgery so common to Marfan syndrome patients. And that perhaps his being in the drug study could help the fight against Marfan syndrome.
“We hope someday nobody has to go through what we went through, getting a diagnosis of Marfan syndrome,’’ she says. “We hope that. We pray that.’’
 

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